Incidental Mutation 'IGL02694:Gykl1'
ID303850
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gykl1
Ensembl Gene ENSMUSG00000053624
Gene Nameglycerol kinase-like 1
SynonymsGk-rs1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.402) question?
Stock #IGL02694
Quality Score
Status
Chromosome18
Chromosomal Location52693679-52695668 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 52694185 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 155 (H155R)
Ref Sequence ENSEMBL: ENSMUSP00000067598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066193]
Predicted Effect probably benign
Transcript: ENSMUST00000066193
AA Change: H155R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000067598
Gene: ENSMUSG00000053624
AA Change: H155R

DomainStartEndE-ValueType
Pfam:FGGY_N 12 266 6.8e-90 PFAM
Pfam:FGGY_C 275 467 4.2e-66 PFAM
transmembrane domain 524 546 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the FGGY kinase family. This protein is a key enzyme in the regulation of glycerol uptake and metabolism. It catalyzes the phosphorylation of glycerol by ATP, yielding ADP and glycerol-3-phosphate. Mutations in this gene are associated with glycerol kinase deficiency (GKD). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acer3 A G 7: 98,216,877 I213T probably benign Het
Alox8 T A 11: 69,186,629 T432S probably damaging Het
Col4a3 T C 1: 82,710,794 probably benign Het
Cyp2c54 A G 19: 40,047,543 Y308H possibly damaging Het
Dscam A G 16: 96,593,276 V1942A probably benign Het
F11 T C 8: 45,252,159 Y115C probably damaging Het
Fam13b A G 18: 34,451,206 probably null Het
Gm4778 A G 3: 94,266,152 M152V probably benign Het
Lmo7 T A 14: 101,887,170 V355D probably damaging Het
Lrtm2 T A 6: 119,320,885 D65V possibly damaging Het
Ly6g6f C T 17: 35,081,168 V235M possibly damaging Het
Mlxipl G A 5: 135,124,018 probably null Het
Olfr294 C T 7: 86,616,310 V112I probably benign Het
Olfr53 A G 7: 140,652,180 N67S probably damaging Het
Olfr736 A G 14: 50,392,800 I15V probably benign Het
Ppp2r1a A G 17: 20,951,440 probably benign Het
Psmb2 A G 4: 126,709,558 N193S probably benign Het
Rassf2 A T 2: 132,009,721 Y34N possibly damaging Het
Ryr2 A G 13: 11,605,189 F3841L probably damaging Het
Skint2 A G 4: 112,616,595 probably benign Het
Spdl1 T C 11: 34,813,621 I462V probably benign Het
Tlk2 A G 11: 105,221,235 E138G probably benign Het
Vmn1r89 A G 7: 13,220,129 E196G probably benign Het
Zfp142 A G 1: 74,570,148 L1496P probably damaging Het
Zfp689 T C 7: 127,448,401 D94G possibly damaging Het
Zfp944 A G 17: 22,339,918 V116A probably benign Het
Other mutations in Gykl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01348:Gykl1 APN 18 52694736 missense possibly damaging 0.94
R0689:Gykl1 UTSW 18 52694051 missense possibly damaging 0.90
R0856:Gykl1 UTSW 18 52695369 makesense probably null
R0908:Gykl1 UTSW 18 52695369 makesense probably null
R1428:Gykl1 UTSW 18 52694761 missense probably benign 0.00
R2229:Gykl1 UTSW 18 52695267 missense probably benign 0.00
R5307:Gykl1 UTSW 18 52694651 missense possibly damaging 0.67
R5696:Gykl1 UTSW 18 52694195 missense probably benign 0.02
R6278:Gykl1 UTSW 18 52695208 missense probably benign 0.06
R8804:Gykl1 UTSW 18 52694536 missense probably benign 0.00
RF040:Gykl1 UTSW 18 52694416 missense probably benign 0.06
RF041:Gykl1 UTSW 18 52694416 missense probably benign 0.06
RF042:Gykl1 UTSW 18 52694416 missense probably benign 0.06
RF044:Gykl1 UTSW 18 52694416 missense probably benign 0.06
Z1088:Gykl1 UTSW 18 52694165 nonsense probably null
Z1176:Gykl1 UTSW 18 52694547 missense probably damaging 1.00
Z1177:Gykl1 UTSW 18 52695132 missense possibly damaging 0.81
Posted On2015-04-16